Impact of DEFB1 gene regulatory polymorphisms on hBD-1 salivary concentration.
Arch Oral Biol
; 60(7): 1054-8, 2015 Jul.
Article
em En
| MEDLINE
| ID: mdl-25939140
ABSTRACT
OBJECTIVES:
Human ß-defensin 1 (hBD-1) is an antimicrobial peptide involved in epithelial defence of various tissues, also present in the saliva. Individual genetic variations within the DEFB1 gene, encoding for hBD-1, could influence gene expression and protein production.DESIGN:
Three DEFB1 polymorphisms at 5' untranslated region (UTR), -52G > A (rs1799946), -44C > G (rs1800972) and -20G > A (rs11362), and two polymorphisms at DEFB1 3' UTR, c*5G > A (rs1047031) and c*87A > G (rs1800971), were analysed by direct sequencing and correlated with hDB-1 salivary concentration (tested with enzyme-linked immunosorbent assay (ELISA)) in 40 healthy subjects.RESULTS:
Significant associations were found between individuals presenting different DEFB1 polymorphisms at positions -52 and -44 of the gene and hBD-1 salivary concentrations -52 G/G carriers had higher levels of protein than G/A and A/A; -44C/G subjects showed a higher protein concentration than homozygous wild-type C/C. For the -20G > A, c*5G > A and c*87A > G polymorphisms, no statistically significant differences were found. Combined haplotype analysis confirmed the results obtained considering the single-nucleotide polymorphisms (SNPs) singularly.CONCLUSION:
Polymorphisms in the DEFB1 gene influence hBD-1 production and, therefore, could modify the innate immune system responses and, consequently, the oral health.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Saliva
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Polimorfismo de Nucleotídeo Único
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Beta-Defensinas
Limite:
Adult
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Female
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Humans
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Male
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article